HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17027734del , CM000663.2:g.17027734del | GRCh38 |
NC_000001.10:g.17354229del , CM000663.1:g.17354229del | GRCh37 |
NC_000001.9:g.17226816del | NCBI36 |
NG_012340.1:g.31439del , LRG_316:g.31439del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.369+17del | ENSP00000481376.2:n.369+17del | |
ENST00000491274.6:c.498+17del | ENSP00000480482.2:n.498+17del | |
ENST00000375499.8:c.540+17del MANE Select | ENSP00000364649.3:n.540+17del | |
ENST00000375499.7:c.540+17del | ENSP00000364649.3:n.540+17del | |
ENST00000475506.1:n.474del | ||
ENST00000485515.5:n.474+17del | ||
ENST00000491274.5:c.498+17del | ENSP00000480482.1:n.498+17del | |
NM_003000.2:c.540+17del , LRG_316t1:c.540+17del | NP_002991.2:n.540+17del | |
NM_003000.3:c.540+17del MANE Select | NP_002991.2:n.540+17del |